rs121913021

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121913021(C;T)

Make rs121913021(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

45352580

Gene

ERCC2

is a	snp
is	mentioned by
dbSNP	rs121913021
dbSNP (classic)	rs121913021
ClinGen	rs121913021
ebi	rs121913021
HLI	rs121913021
Exac	rs121913021
Gnomad	rs121913021
Varsome	rs121913021
LitVar	rs121913021
Map	rs121913021
PheGenI	rs121913021
Biobank	rs121913021
1000 genomes	rs121913021
hgdp	rs121913021
ensembl	rs121913021
geneview	rs121913021
scholar	rs121913021
google	rs121913021
pharmgkb	rs121913021
gwascentral	rs121913021
openSNP	rs121913021
23andMe	rs121913021
SNPshot	rs121913021
SNPdbe	rs121913021
MSV3d	rs121913021
GWAS Ctlg	rs121913021

Max Magnitude

0

OMIM	126340
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121913021(T;T)
Alt	rs121913021(T;T)
Reference	Rs121913021(C;C)
Significance	Pathogenic
Disease	Trichothiodystrophy 1
Variation	info
Gene	ERCC2
CLNDBN	Trichothiodystrophy 1, photosensitive
Reversed	1
HGVS	NC_000019.9:g.45855838G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018275.28,